ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828414662
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
426155
ClinVar RCV:
RCV000497607
RCV001022632
RCV001078813
ClinVar Variation:
432500
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357333.1:p.Ser1463Phe
CA394302786
NM_001370404.1:c.4388C>T